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      Deleterious BRCA1/2 mutations in an urban population of Black women

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          Abstract

          Information on the prevalence of deleterious BRCA1 and BRCA2 (BRCA1/2) mutations in clinic-based populations of Black women is limited. In order to address this gap, we performed a retrospective study to determine the prevalence of deleterious BRCA1/2 mutations, predictors of having a mutation, and acceptance of risk-reducing surgeries in Black women. In an urban unselected clinic-based population, we evaluated 211 self-identified Black women who underwent genetic counseling for hereditary breast–ovarian cancer syndrome. BRCA1/2 mutations were identified in 13.4 % of the participants who received genetic testing. Younger age at diagnosis, higher BRCA-PRO score, significant family history, and diagnosis of triple-negative breast cancer were associated with identification of a BRCA1/2 mutation. Of the affected patients found to have a deleterious mutation, almost half underwent prophylactic measures. In our study population, 1 in 7 Black women who underwent genetic testing harbored a deleterious BRCA1/2 mutation independent of age at diagnosis or family history.

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          Author and article information

          Journal
          8111104
          1254
          Breast Cancer Res Treat
          Breast Cancer Res. Treat.
          Breast cancer research and treatment
          0167-6806
          1573-7217
          10 May 2018
          07 August 2015
          August 2015
          22 May 2018
          : 153
          : 1
          : 201-209
          Affiliations
          [1 ]Division of Hematology/Oncology, Lombardi Comprehensive Cancer Center, MedStar Georgetown University Hospital, 3800 Reservoir Rd NW Podium C, Washington, DC 20007, USA
          [2 ]Johns Hopkins Sidney Kimmel Comprehensive Cancer Center, Baltimore, MD, USA
          [3 ]George Washington University, Washington, DC, USA
          [4 ]Inova Fairfax Hospital, Falls Church, VA, USA
          [5 ]Department of Biostatistics, Bioinformatics and Biomathematics, Georgetown University, Washington, DC, USA
          [6 ]MedStar Washington Hospital Center, Washington, DC, USA
          [7 ]Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC, USA
          Article
          PMC5963698 PMC5963698 5963698 nihpa956683
          10.1007/s10549-015-3527-8
          5963698
          26250392
          260e9236-7fa0-4fc4-90d1-5a16c6329128
          History
          Categories
          Article

          Genetic testing, BRCA mutations,Black women,Breast cancer

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